raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1934

Early infantile developmental and epileptic encephalopathy

Synonyms: EIDEE · Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Type
Clinical syndrome
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Age of onset
Neonatal
Status
active

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enEarly infantile developmental and epileptic encephalopathyEIDEE · Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome
frEncéphalopathie développementale et épileptique infantile précoceEIDEE · Encéphalopathie épileptique infantile précoce avec "suppression-bursts" · Syndrome d'Ohtahara
deFrühinfantile entwicklungsbedingte und epileptische EnzephalopathieEIDEE · Frühinfantile epileptische Enzephalopathie mit Suppression-burst · Ohtahara-Syndrom
esEncefalopatía epiléptica y del desarrollo infantil precozEIDEE · Encefalopatía epiléptica infantil precoz con brote-supresión · Síndrome de Ohtahara
itEncefalopatia epilettica e dello sviluppo infantile precoceEIEE · Encefalopatia epilettica infantile precoce con appiattimento elettrico cerebrale · Sindrome di Ohtahara
nlVroeg-infantiele ontwikkelingsstoornis en epileptische encefalopathieEIDEE · Syndroom van Ohtahara · Vroeg-infantiele epileptische encefalopathie met burstsuppressie
ptEncefalopatia epiléptica e do desenvolvimento infantil precoceEIDEE · Encefalopatia epiléptica infantil precoce com surtos de supressão · Síndrome Ohtahara
plWczesnoniemowlęca encefalopatia rozwojowa i padaczkowaEIEE · Wczesnoniemowlęca encefalopatia padaczkowa z tłumieniem wyładowań · Zespół Ohtahara
csČasná infantilní epileptická encefalopatieEIEE · Časná infantilní epileptická encefalopatie s periodickými výboji s následujícím útlumem na EEG · Ohtaharův syndrom
ukРання інфантильна епілептична енцефалопатіяРання дитяча епілептична енцефалопатія з судомними нападами · EIEE · Синдром Отахари
zh早期幼儿癫痫性脑病早期婴儿癫痫性脑病伴抑制-爆发
trErken infantil epileptik ensefalopatiEIEE · Ohtahara sendromu · Supresyon patlamaları ile seyreden erken infantil epileptik ensefalopati

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM300672BTNTvalidated
OMIM308350BTNTvalidated
OMIM609304BTNTvalidated
OMIM612164BTNTvalidated
OMIM613402BTNTvalidated
OMIM613721BTNTvalidated
OMIM616341BTNTvalidated
OMIM617105BTNTvalidated
OMIM617276BTNTvalidated
OMIM617281BTNTvalidated
OMIM617350BTNTvalidated
OMIM617389BTNTvalidated
OMIM617391BTNTvalidated
OMIM617493BTNTvalidated
OMIM617599BTNTvalidated
OMIM618004BTNTvalidated
OMIM618285BTNTvalidated
OMIM618374BTNTvalidated
OMIM618548BTNTvalidated
OMIM618663BTNTvalidated
OMIM619340BTNTvalidated
OMIM619428BTNTvalidated
OMIM620774BTNTvalidated
OMIM621468BTNTvalidated
OMIM621475BTNTvalidated
ICD-10G40.3NTBTattributedvalidated
ICD-118A62.YNTBTindexvalidated
MONDO800491Evalidated
UMLSC0393706Evalidated
GARD9255Evalidated
MedDRA10071545Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (6):

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

21 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
SCN2ADisease-causing germline mutation(s) (gain of function) inAssessedHGNC:10588ENSG000001365311823902q24.3sodium voltage-gated channel alpha subunit 223550958[PMID]_23935176[PMID]
CASKDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:1497ENSG00000147044300172Xp11.4calcium/calmodulin dependent serine protein kinase24278995[PMID]_22709267[PMID]
GRIN1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:4584ENSG000001768841382499q34.3glutamate ionotropic receptor NMDA type subunit 134611970[PMID]
PIGQDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:14135ENSG0000000754160575416p13.3phosphatidylinositol glycan anchor biosynthesis class Q24463883[PMID]
ARXDisease-causing germline mutation(s) inAssessedHGNC:18060ENSG00000004848300382Xp21.3aristaless related homeobox22196487[PMID]_20506206[PMID]_22787626[PMID]
CACNA1EDisease-causing germline mutation(s) inAssessedHGNC:1392ENSG000001982166010131q25.3calcium voltage-gated channel subunit alpha1 E30343943[PMID]
CDKL5Disease-causing germline mutation(s) inAssessedHGNC:11411ENSG00000008086300203Xp22.13cyclin dependent kinase like 522196487[PMID]_22787626[PMID]
DMXL2Disease-causing germline mutation(s) inAssessedHGNC:2938ENSG0000010409361218615q21.2Dmx like 231688942[PMID]
GNAO1Disease-causing germline mutation(s) inAssessedHGNC:4389ENSG0000008725813931116q13G protein subunit alpha o123993195[PMID]
GRM7Disease-causing germline mutation(s) inAssessedHGNC:4599ENSG000001962776041013p26.1glutamate metabotropic receptor 734273994[PMID]
KCNA1Disease-causing germline mutation(s) inAssessedHGNC:6218ENSG0000011126217626012p13.32potassium voltage-gated channel subfamily A member 130055040[PMID]
LGI1Disease-causing germline mutation(s) inAssessedHGNC:6572ENSG0000010823160461910q23.33leucine rich glioma inactivated 141000458[PMID]_40455867[PMID]
NEUROD2Disease-causing germline mutation(s) inAssessedHGNC:7763ENSG0000017153260172517q12neuronal differentiation 230323019[PMID]
PIGPDisease-causing germline mutation(s) inAssessedHGNC:3046ENSG0000018580860593821q22.13phosphatidylinositol glycan anchor biosynthesis class P28334793[PMID]
PNKPDisease-causing germline mutation(s) inAssessedHGNC:9154ENSG0000003965060561019q13.33polynucleotide kinase 3'-phosphatase20118933[PMID]
RHOBTB2Disease-causing germline mutation(s) inAssessedHGNC:18756ENSG000000088536073528p21.3Rho related BTB domain containing 229276004[PMID]_39831600[PMID]
SCN1BDisease-causing germline mutation(s) inAssessedHGNC:10586ENSG0000010571160023519q13.11sodium voltage-gated channel beta subunit 128218389[PMID]
SIK1Disease-causing germline mutation(s) inAssessedHGNC:11142ENSG0000014217860570521q22.3salt inducible kinase 125839329[PMID]
SLC25A22Disease-causing germline mutation(s) inAssessedHGNC:19954ENSG0000017754260930211p15.5solute carrier family 25 member 2219780765[PMID]
SLC32A1Disease-causing germline mutation(s) inAssessedHGNC:11018ENSG0000010143861644020q11.23solute carrier family 32 member 136073542[PMID]
TRIM8Disease-causing germline mutation(s) inAssessedHGNC:15579ENSG0000017120660612510q24.32tripartite motif containing 830244534[PMID]
5

Prevalence and incidence

3 records
TypeClassValueAreaQualificationValidationSource
Prevalence at birth1-9 / 100 0001 / 100 000JapanValue and classValidated19828294[PMID]
Prevalence at birth1-9 / 100 0002 / 100 000United KingdomValue and classValidated23252366[PMID]_[EXPERT]
Point prevalenceUnknown—EuropeClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

63 annotations · validated 2019-07-31
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0001250Seizure
Very frequent (99-80%)
HP:0200134Epileptic encephalopathy
HP:0011153Focal motor seizure
HP:0002123Generalized myoclonic seizure
HP:0001263Global developmental delay
HP:0001249Intellectual disability
Frequent (79-30%)
HP:0002015Dysphagia
HP:0002353EEG abnormality
HP:0010851EEG with burst suppression
HP:0011968Feeding difficulties
HP:0008947Floppy infant
HP:0011167Focal tonic seizure
HP:0001347Hyperreflexia
HP:0002521Hypsarrhythmia
HP:0001254Lethargy
HP:0002421Poor head control
HP:0002033Poor suck
HP:0002205Recurrent respiratory infections
HP:0002360Sleep abnormality
Occasional (29-5%)
HP:0010819Atonic seizure
HP:0000729Autistic behavior
HP:0002069Bilateral tonic-clonic seizure
HP:0001272Cerebellar atrophy
HP:0001266Choreoathetosis
HP:0012448Delayed myelination
HP:0002376Developmental regression
HP:0002506Diffuse cerebral atrophy
HP:0007204Diffuse white matter abnormalities
HP:0100660Dyskinesia
HP:0010850EEG with spike-wave complexes
HP:0002131Episodic ataxia
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0007359Focal-onset seizure
HP:0011169Generalized clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0010818Generalized tonic seizure
HP:0000752Hyperactivity
HP:0002079Hypoplasia of the corpus callosum
HP:0012469Infantile spasms
HP:0001336Myoclonus
HP:0001302Pachygyria
HP:0100716Self-injurious behavior
HP:0001257Spasticity
HP:0001337Tremor
HP:0011190Uni- and bilateral multifocal epileptiform discharges
Very rare (<4-1%)
HP:0012554Absent thumbnail
HP:0000463Anteverted nares
HP:0001500Broad finger
HP:0010174Broad phalanx of the toes
HP:0000175Cleft palate
HP:0005280Depressed nasal bridge
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0000252Microcephaly
HP:0000054Micropenis
HP:0000826Precocious puberty
HP:0000110Renal dysplasia
HP:0009381Short finger
HP:0000340Sloping forehead
HP:0000486Strabismus
HP:0001537Umbilical hernia
HP:0000070Ureterocele
HP:0001629Ventricular septal defect

Run the differential on the 6 obligate / very frequent terms

Annotation source: 31205438[PMID]_31097300[PMID]_18809835[PMID]_19396824[PMID]_22872100[PMID]_27905812[PMID]_27789573[PMID]_19812426[PMID]

7

Sources for this card